Costa Patrícia Britto, Aranalde Laura C, Correia Poliana E, Cardozo Guilherme R F, da Silva Evelise Sampaio, da Costa Monica Schiavon, Valle Sandra Costa, Bertacco Renata Torres Abib, Pieniz Simone, Araujo Ronaldo Carvalho, Schneider Augusto, Schadock Ines, Barros Carlos Castilho
Nutrition Faculty, Federal University of Pelotas -UFPel, Pelotas, RS, Brazil.
Medical Faculty, Federal University of Rio Grande, Rio Grande, RS, Brazil.
Int J Obes (Lond). 2021 Feb;45(2):337-341. doi: 10.1038/s41366-020-00668-3. Epub 2020 Sep 1.
The genetic influence in obesity prevalence is well described, but the role of genetic markers related to athletic strength/ endurance performance remains controversial. We investigated associations between obesity and the genetic polymorphisms alpha-actinin-3 (ACTN3) R577X and angiotensin-converting enzyme (ACE) I/D in schoolchildren aged 4-13 years from Southern Brazil. We collected sociodemographic data from parents through a questionnaire and conducted an anthropometric assessment. DNA was extracted from buccal cells and genotyping was performed by PCR. We found that 1.9% of the individuals were classified as low weight-for-age, 57.6% as normal weight and 40.5% as overweight/ obesity. Regarding allelic distribution, we found that 52.5% of individuals were DD, 30.8% ID, and 16.7% II for ACE; and 38.8% of individuals were RR, 40.2% RX and 21.0% XX for ACTN3. When both polymorphisms were combined, we observed a clear association between the composed genetic profile of these alleles and severe obesity in schoolchildren. Our data suggest that the combined analysis of ACTN3 R577X and ACE I/D polymorphisms may serve as a predictor for the risk of severe obesity in children. These data can contribute to a better understanding of the relationship between these polymorphisms and the body weight development of school-age children.
肥胖流行率中的遗传影响已得到充分描述，但与运动强度/耐力表现相关的遗传标记的作用仍存在争议。我们调查了巴西南部4至13岁学童中肥胖与α-辅肌动蛋白-3（ACTN3）R577X和血管紧张素转换酶（ACE）I/D基因多态性之间的关联。我们通过问卷从家长那里收集社会人口统计学数据，并进行人体测量评估。从颊细胞中提取DNA，通过聚合酶链反应进行基因分型。我们发现，1.9%的个体被归类为年龄别体重低，57.6%为正常体重，40.5%为超重/肥胖。关于等位基因分布，我们发现ACE基因中52.5%的个体为DD，30.8%为ID，16.7%为II；ACTN3基因中38.8%的个体为RR，40.2%为RX，21.0%为XX。当将这两种多态性结合起来时，我们观察到这些等位基因的组合遗传图谱与学童严重肥胖之间存在明显关联。我们的数据表明，ACTN3 R577X和ACE I/D多态性的联合分析可能作为儿童严重肥胖风险的预测指标。这些数据有助于更好地理解这些多态性与学龄儿童体重发育之间的关系。
